| Metadata | |
|---|---|
| ID | DOID:0060608 |
| Name | microcephalic osteodysplastic primordial dwarfism type I |
| Definition | An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. http://omim.org/entry/210710, https://www.ncbi.nlm.nih.gov/pubmed/22302400 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
brachymelic primordial dwarfism [EXACT] cephaloskeletal dysplasia [EXACT] low-birth-weight dwarfism with skeletal dysplasia [EXACT] osteodysplastic primordial dwarfism type I [EXACT] Taybi-Linder syndrome [EXACT] |
| Parent Relationships |